Egypt works towards freedom from genetic diseases

Ever since the initiative for Early Detection of Genetic Diseases in New Borns took off in July 2021, the initiative examined 284,374 neonates, the Ministry of Health and Population announced today, 22 May. The Early Detection of Genetic Diseases in New Borns initiative runs under the umbrella of “100 Million Healths” launched by President Sisi in October 2018; it was first launched for mass screening and treatment of Hepatitis C (HCV), and NCDs, but further expanded into other diseases once the HCV objective was attained. The Early Detection of Genetic Diseases initiative aims to reach a healthy generation free from causes of disability.

According to the Ministry of Health spokesperson, Hossam Abdel-Ghaffar, the initiative is currently operating in its phase of screening neonates and premature babies for 19 genetic diseases in the Ministry of Health hospitals. A second phase, Mr Abdel-Ghaffar said, should expand to include neonates in all medical units nationwide.

According to Wael Abdel-Razek, Head of Primary Healthcare and Nursing Sector with the Ministry of Health, the screening is carried out by taking a blood sample from the baby’s heel, then sending the sample to be tested at the Egyptian Centre for Diseases and Control (ECDC) which has state-of-the-art devices for detection of genetic diseases. If one of the samples tests positive, it is then sent for a second test to confirm the diagnosis, and to start administering the necessary treatment protocol free of charge.

The diseases screened, Dr Abdel-Razek said, include congenital hypothyroidism, congenital adrenal hyperplasia, G6PD deficiency, glutaric aciduria, isovaleric acidaemia, and maple syrup urine disease.

Hala Abdel-Rahman, Coordinator of the Early Detection of Genetic Diseases Initiative, said that in cooperation with the Supreme Council for University Hospitals, 42 centres in various Egyptian governorates have been allocated for the treatment of genetic diseases in newborns. She explained that the initiative is currently working to cover Egypt in its entirety. The centres, Dr Abdel-Rahman pointed out, offer treatment and follow-up for children suffering from genetic disorders free of charge. In addition, she said, the centres offer guidance to parents to reduce the risk of getting new babies suffering from genetic disorders.